heterotaxy, visceral, 5, autosomal
Findings
No curated finding names heterotaxy, visceral, 5, autosomal yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.
Definition from the Mondo Disease Ontology (MONDO:0700112), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dextrotransposition of the great arteriesHPOHP:0031348
- 10 of 14 reported patients
- Atrial septal defectHPOHP:0001631
- 9 of 14 reported patients
- Pulmonary artery atresiaHPOHP:0004935
- 8 of 14 reported patients
- Single ventricleHPOHP:0001750
- 7 of 14 reported patients
- Abdominal situs ambiguusHPOHP:0031565
- 17 of 35 reported patients
- Abdominal situs inversusHPOHP:0003363
- 3 of 18 reported patients · Congenital onset · Female
- 5 of 14 reported patients
Show the remaining 17
- Total anomalous pulmonary venous returnHPOHP:0005160
- 3 of 14 reported patients
- Atrial reentry tachycardiaHPOHP:0011699
- 2 of 14 reported patients
- Atrioventricular canal defectHPOHP:0006695
- 2 of 14 reported patients
- Ascending tubular aorta aneurysmHPOHP:0004970
- 1 of 14 reported patients
- Bilateral trilobed lungHPOHP:0011861
- 1 of 14 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 14 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NODALHGNC:7865
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: heterotaxy, visceral, 5, autosomal
- Also called
- HTX5NODAL visceral heterotaxysitus inversus viscerumSIVvisceral heterotaxy caused by mutation in NODAL